Incidental Mutation 'R5159:Pcdhga5'
| ID |
396910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga5
|
| Ensembl Gene |
ENSMUSG00000103567 |
| Gene Name |
protocadherin gamma subfamily A, 5 |
| Synonyms |
|
| MMRRC Submission |
042741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R5159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37827433-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37828719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 389
(N389S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000194190]
[ENSMUST00000194544]
[ENSMUST00000194418]
|
| AlphaFold |
Q91XY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
AA Change: N389S
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: N389S
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4177 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
| Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
| Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
| Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
| Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
| Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
| Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
| Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
| Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
| Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
| Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
| Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
|
| Other mutations in Pcdhga5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4581001:Pcdhga5
|
UTSW |
18 |
37,829,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3775:Pcdhga5
|
UTSW |
18 |
37,828,167 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4232:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4234:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4235:Pcdhga5
|
UTSW |
18 |
37,829,001 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4815:Pcdhga5
|
UTSW |
18 |
37,828,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4884:Pcdhga5
|
UTSW |
18 |
37,827,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5279:Pcdhga5
|
UTSW |
18 |
37,827,774 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5393:Pcdhga5
|
UTSW |
18 |
37,829,720 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6271:Pcdhga5
|
UTSW |
18 |
37,829,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6574:Pcdhga5
|
UTSW |
18 |
37,828,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Pcdhga5
|
UTSW |
18 |
37,828,098 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7747:Pcdhga5
|
UTSW |
18 |
37,829,835 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7775:Pcdhga5
|
UTSW |
18 |
37,828,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Pcdhga5
|
UTSW |
18 |
37,828,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Pcdhga5
|
UTSW |
18 |
37,829,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Pcdhga5
|
UTSW |
18 |
37,828,974 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8773:Pcdhga5
|
UTSW |
18 |
37,829,823 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8780:Pcdhga5
|
UTSW |
18 |
37,828,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8783:Pcdhga5
|
UTSW |
18 |
37,828,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Pcdhga5
|
UTSW |
18 |
37,829,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9150:Pcdhga5
|
UTSW |
18 |
37,827,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdhga5
|
UTSW |
18 |
37,828,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGTCACAGTCCAGGATG -3'
(R):5'- CAGCGTCATAGGCGTAAACC -3'
Sequencing Primer
(F):5'- TGTGAATGACAATGCCCCAG -3'
(R):5'- TTTCTGAGATGGAAGTGGAATAGAAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation